Townes–Brocks syndrome with adult renal impairment in a Chinese family:A case report  

作　　者：Jing Wu Jun Zhang Tang-Li Xiao Ting He 

机构地区：[1]Department of Nephrology,The Key Laboratory for the Prevention and Treatment of Chronic Kidney Disease of Chongqing,Chongqing Clinical Research Center of Kidney and Urology Diseases,Xinqiao Hospital,Army Medical University(Third Military Medical University),Chongqing 400037,China

出　　处：《World Journal of Clinical Cases》2023年第23期5567-5572,共6页世界临床病例杂志

基　　金：Supported by Joint Medical Project of Science and Technology Commission of Chongqing,No.2021MSXM164.

摘　　要：BACKGROUND Townes–Brocks syndrome(TBS)is a rare autosomal dominant syndrome that is characterized by a triad of imperforate anus,dysplastic ears,and thumb malformations.Heterozygous variants of SALL1 are responsible for this syndrome.Renal structural abnormalities and functional impairments are often reported in TBS patients.CASE SUMMARY We report a case of TBS in a Chinese family.The index patients showed obvious renal atrophy and renal failure.TBS was suggested after a physical examination and pedigree analysis.Whole exome sequencing revealed a heterozygous variant of SALL1.The variant(NM_001127892 c.1289_c.1290 insC)led to a read-frame shift of the encoded protein,which was confirmed by Sanger sequencing.The variant cosegregated with the phenotype among affected members.CONCLUSION A novel variant in SALL1 gene may be the molecular pathogenic basis of this disorder.

关 键 词：Townes-Brocks syndrome SALL1 Renal impairment PEDIGREE Whole exon sequencing Case report 

分 类 号：R596.1[医药卫生—内科学] R593.242[医药卫生—临床医学]